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Updated: Feb 19, 2026
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Prenatal diagnosis of nail patella syndrome: A case report
L D Padmanabhan1, D Yesodharan2, S Nampoothiri2
1Division of Perinatology, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India.
Abstract:
The Nail Patella Syndrome (NPS) is an autosomal dominant connective tissue disorder affecting the nails, skeletal system, kidneys and eyes. Here, we report a case of NPS detected at 19 weeks of gestation. The movements of the elbow and knee joints were restricted and there was rotational deformity of the knee joints. To our knowledge, this is the first report of in-utero restriction of limb movements in a fetus with NPS.
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